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Disorders in chromosome number

Of all of the chromosomal disorders, abnormalities in chromosome number are the most obviously identifiable from a karyogram. Disorders of chromosome number include the duplication or loss of entire chromosomes, as well as changes in the number of complete sets of chromosomes. They are caused by nondisjunction    , which occurs when pairs of homologous chromosomes or sister chromatids fail to separate during meiosis. Misaligned or incomplete synapsis, or a dysfunction of the spindle apparatus that facilitates chromosome migration, can cause nondisjunction. The risk of nondisjunction occurring increases with the age of the parents.

Nondisjunction can occur during either meiosis I or II, with differing results ( [link] ). If homologous chromosomes fail to separate during meiosis I, the result is two gametes that lack that particular chromosome and two gametes with two copies of the chromosome. If sister chromatids fail to separate during meiosis II, the result is one gamete that lacks that chromosome, two normal gametes with one copy of the chromosome, and one gamete with two copies of the chromosome.

Art connection

This illustration shows nondisjunction that occurs during meiosis I. Nondisjunction during meiosis I occurs when a homologous pair fails to separate, and results in two gametes with n + 1 chromosomes, and two gametes with n − 1 chromosomes. Nondisjunction during meiosis II would occur when sister chromatids fail to separate, and results in one gamete with n + 1 chromosomes, one gamete with n − 1 chromosomes, and two normal gametes.
Nondisjunction occurs when homologous chromosomes or sister chromatids fail to separate during meiosis, resulting in an abnormal chromosome number. Nondisjunction may occur during meiosis I or meiosis II.

Which of the following statements about nondisjunction is true?

  1. Nondisjunction only results in gametes with n+1 or n–1 chromosomes.
  2. Nondisjunction occurring during meiosis II results in 50 percent normal gametes.
  3. Nondisjunction during meiosis I results in 50 percent normal gametes.
  4. Nondisjunction always results in four different kinds of gametes.

Aneuploidy

An individual with the appropriate number of chromosomes for their species is called euploid    ; in humans, euploidy corresponds to 22 pairs of autosomes and one pair of sex chromosomes. An individual with an error in chromosome number is described as aneuploid    , a term that includes monosomy    (loss of one chromosome) or trisomy    (gain of an extraneous chromosome). Monosomic human zygotes missing any one copy of an autosome invariably fail to develop to birth because they lack essential genes. This underscores the importance of “gene dosage” in humans. Most autosomal trisomies also fail to develop to birth; however, duplications of some of the smaller chromosomes (13, 15, 18, 21, or 22) can result in offspring that survive for several weeks to many years. Trisomic individuals suffer from a different type of genetic imbalance: an excess in gene dose. Individuals with an extra chromosome may synthesize an abundance of the gene products encoded by that chromosome. This extra dose (150 percent) of specific genes can lead to a number of functional challenges and often precludes development. The most common trisomy among viable births is that of chromosome 21, which corresponds to Down Syndrome. Individuals with this inherited disorder are characterized by short stature and stunted digits, facial distinctions that include a broad skull and large tongue, and significant developmental delays. The incidence of Down syndrome is correlated with maternal age; older women are more likely to become pregnant with fetuses carrying the trisomy 21 genotype ( [link] ).

Questions & Answers

what does DNA mean
innocent Reply
what is a zygote
Victor Reply
zygote is developed or fertilized egg cell
Lekan
what is the difference between cell wall and cell membrane
Ruhiyatu Reply
cell wall is found in plant while cell membrane is found in animal cell
Lekan
how cell I form
Elijah Reply
what difference between animal cell and plant cell
Lazarus Reply
what is animal call
Rita
Animal cell does not have a cell wall but plant cell have a cell wall
Ruhiyatu
plant have cell Wall well animal have not cell wall
Yula
what is fertilization?
Muhamed Reply
Fertilization is the fusion of male sex cell and female sex cell to form a zygote.
Ruhiyatu
What kind of nutrients is composed of plants
Annie Reply
phosphorus,potassium,nitrogen
Kritika
what is hormones
Igwe Reply
hormon is the chemical messanger
Sneha
Genes can make someone dull?
Taperah
21ecological instrument and their diagrams
Ayomide Reply
cell biology
Muhamed
I am sorry
onuoha
for wat
ezeadaugo
no reason
KP
nothing but speculate
KP
Sorry without reason is nothing but speculate
Leilah
what are the kidney disease
Immaculate Reply
kidney stones
Gracelyne
it is a disease that affects the kidney
Miriam
what are some lung diseases
Gracelyne
kidney cancer
Victor
what is micro-organism
Jackson Reply
what is the hypothesis
Jackson
hypothesis is a proposed explanation for a phenomenon
Miriam
hypothesis is raw materials
KP
what is biology
KP
biology is the study of living things and their interaction with their environment
Miriam
what is zyogot?
Muhamed
what is fertilization?
Muhamed
zygote is an unfertilized eggs
KP
fertilization refers to the fusion of a sperm and ovum
KP
organs that can't be seen physically
Victor
what does mean stigma
Amira Reply
the stigma receives pollen grains during pollination
Ruhiyatu
what is the full of the MOST dangerous disease in the world where one stops sleeping and just dies :Hint ; FFI
God Reply
fatal familial insomnia which affects the thalamus
Miriam
there are other dangerous diseases like CAD i.e coronary artery disease
Miriam
what is matter
Thomas Reply
it is any thing that has weight and occupies space
Anye
matter is any substances that occupies spaces and has mass
Jackson
describe photosynthesis
Mavis Reply
What is equilibrium
Mavis
What is equilibrium
Mavis
like corporal intern balance right?
FRANCISCA
on my own understanding is just a balanced state
Stanley
photosynthesis is the process by which plants and other organisms convert light energy to chemical energy
Miriam
photosynthesis is describe as the process by which green plants use energy from the sunlight to manufacture their own food by combining carbon dioxide and water.
Ruhiyatu

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Source:  OpenStax, Biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11448/1.10
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